Cystic kidney disease – finding new drug treatments

Published on 20 December 2017

Cystic kidney disease is a common symptom of a group of rare inherited disorders known as ciliopathies. Affected children can experience a variety of symptoms, which are caused due to problems with the tiny hair-like structures –called cilia – on cells. With no effective drugs available to prevent or slow down progressive damage to their kidneys, they will all eventually need to receive either dialysis or a transplant – and some will tragically have their lives cut short. Professor Colin Johnson at the University of Leeds is searching for potential drugs that could help preserve kidney function. These could improve and lengthen the lives of children with ciliopathies, alleviating the need for more radical treatments.

How are children’s lives affected now?

Inherited ciliopathies are a group of often chronically disabling, and sometimes life-threatening, conditions. Children can experience a variety of symptoms – but most will develop small, fluid-filled sacs called cysts in their kidneys. When the cysts grow larger, they can stop the kidneys from working properly.

One such condition where a child’s kidneys are severely affected is autosomal recessive polycystic kidney disease (ARPKD).

“More than half of all children who survive the early stages of ARPKD will eventually experience kidney failure by the time they’re 15 to 20 years old,” says Professor Johnson.

At any one time around 5,000 patients in the UK are receiving treatment – either dialysis or a kidney transplant – because of an inherited kidney disease.1,2 And sadly, some will die while on dialysis if they don’t receive a transplant.

“New treatments are desperately needed to stop cysts forming in the kidneys, providing a brighter future for children who are born with one of these inherited conditions,” says Professor Johnson.

How could this research help?

“We’re aiming to find effective new drugs that can treat kidney disease in children with inherited ciliopathies,” says Professor Johnson. “If these can prevent or slow down damage to their kidneys, it would mean they can live longer, healthier lives.”

At the root of all ciliopathies are problems in tiny hair-like structures on cells called cilia. These behave like antennae, helping cells – including kidney cells - to communicate with each other and to sense their surroundings. But when things go wrong with cilia because of faulty genes, problems can arise in cells.

The team has already identified some existing medicines, as well as other chemical compounds that could be developed into new drugs, which can improve cilia formation and function. They are now planning a series of laboratory experiments to further investigate their effectiveness.

“We’re looking at drugs that are already approved for other conditions, so we hope that if they continue to show promise, these could be fast-tracked into a clinical trial within five years,” says Professor Johnson. “We will also take any promising new chemical compounds into the next stages of drug development.”

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